Mutation analysis in Japanese patients with congenital and infantile nephritic syndrome

日本先天性和婴儿肾病综合征患者的突变分析

• 批准号: 21591396
• 负责人: YOSHIKAWA Norishige
• 金额: $ 2.83万
• 依托单位: Wakayama Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21591396/
• 关键词: ネフリン; ポドシン; WT1; ラミニンβ2; PLEC1; 先天性ネフローゼ症候群; 乳児ネフローゼ症候群; マイクロサテライトマーカー

Mutations in each of the NPHS1, NPHS2, WT1, LAMB2, and PLEC1 genes have been implicated in nephrotic syndrome manifesting in the first year of life. The relative frequency of causative mutations in these genes in Japanese children with nephritic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 5 of the genes in 96 patients from 96 families with nephrotic syndrome manifesting in the first year of life. We detected disease-causing mutations in 88. 9%(16 of 18) patients with congenital onset(0. 3 months) and 12. 8%(10 of 78) patients with infantile onset(4. 12 months) of nephrotic syndrome were explained by mutations. Infants with causative mutations in any of the 5 genes do not respond to steroid treatment ; therefore, unnecessary treatment attempts can be avoided.

NPHS1、NPHS2、WT1、LAMB2和PLEC1基因的突变与生命第一年出现的肾病综合征有关。在日本肾病综合征儿童中，这些基因的致病突变的相对频率表现在生命的第一年是未知的。因此，我们分析了来自96个肾病综合征家庭的96例患者的所有5个基因，这些患者表现在生命的第一年。我们在88例中检测到致病突变。18例中有16例（9%）为先天性起病。3个月)和12个月。78例患者中有10例（8%）为婴儿起病；12个月)的肾病综合征可以用突变来解释。5种基因中任何一种发生致病突变的婴儿对类固醇治疗无反应；因此，可以避免不必要的治疗尝试。

项目成果

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome

通过多重连接依赖性探针扩增检测女性 Alport 综合征患者 COL4A5 基因大缺失突变

• 发表时间: 2009
• 期刊: Pediatr Nephrol (Epub ahead of print)
• 作者: Nozu K;Krol RP;Nakanishi K;Yoshikawa N;Nozu Y;Ohtsuka Y;Iijima K;Matsuo M.
• 通讯作者: Matsuo M.

Increased chymase-positive mast cells in children with crescentic glomerulonephritis

新月体肾小球肾炎儿童食糜酶阳性肥大细胞增加

• 发表时间: 2009
• 期刊: Pediatr Nephrol 24
• 作者: Togawa H;Nakanishi K;Shima Y;Obana M;Sako M;Nozu K;Tanaka R;Iijima K;Yoshikawa N.
• 通讯作者: Yoshikawa N.

Treatment strategies for Henoch-Schonlein purpura nephritis by histological and clinical severity

• DOI: 10.1007/s00467-010-1741-5
• 发表时间: 2011-04-01
• 期刊: PEDIATRIC NEPHROLOGY
• 影响因子: 3
• 作者: Ninchoji, Takeshi;Kaito, Hiroshi;Matsuo, Masafumi
• 通讯作者: Matsuo, Masafumi

Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation

• DOI: 10.1542/peds.2010-2592
• 发表时间: 2011-06-01
• 期刊: PEDIATRICS
• 影响因子: 8
• 作者: Shima, Yuko;Nozu, Kandai;Yoshikawa, Norishige
• 通讯作者: Yoshikawa, Norishige

Membranous nephropathy associated with thyroid-peroxidase antigen

• DOI: 10.1007/s00467-008-0973-0
• 发表时间: 2009-03-01
• 期刊: PEDIATRIC NEPHROLOGY
• 影响因子: 3
• 作者: Shima, Yuko;Nakanishi, Koichi;Yoshikawa, Norishige
• 通讯作者: Yoshikawa, Norishige